Skeletal radiological findings in thalassemia major

Adamopoulos, Spyridon G.; Petrocheilou, Glykeria

doi:10.22540/jrpms-04-076

Cited by 10 publications

(14 citation statements)

References 57 publications

(115 reference statements)

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“…For example, "radiating" subperiosteal new bone on the shafts of an infant was reported. Although non-specific, this pathological feature is consistent with hematopoiesis observed in some cases of thalassemia intermedia (Adamopoulos & Petrocheilou, 2019;Cambouris, 1989) rather than cortical rarefaction observed in thalassemia major, such as in the case reported here. Extramedullary hematopoiesis of long bones was also observed in the pre-agricultural sample from Con Co Ngua reported by Vlok et al (2021).…”

Section: Paleopathological Implications Of Thalassemia Diagnosis In Prehistorysupporting

confidence: 91%

Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

Techataweewan

Mann

Vlok

et al. 2021

Intl J of Osteoarchaeology

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Objective: We present a clinically diagnosed case of beta thalassemia major in a deceased 49-year-old Thai female for comparison with paleopathological cases and consideration of age-related changes of anemic skeletal lesions.Methods: Dry bone and radiographic descriptions of pathological changes are provided and compared to clinically documented features of thalassemia. Results:The limb bones in this case exhibit extreme "ballooning" (widening), cortical rarefaction (cortex thinning due to osteoporosis), and varus deformity of the proximal humeri. In the cranium, reduction and coarsening of the trabeculae due to marrow hyperplasia, and radiographic "hair-on-end" appearance are evident. This individual did not present with severe porotic hyperostosis or cribra orbitalia but exhibited diploic expansion.Significance: This case study provides a rare opportunity for a detailed examination of the bone changes present in a fatal homozygote with severe anemia. The case also enables discussion of thalassemia in the wider Southeast Asian context, as major gene variations are known to impact bone metabolism and possibly cause the development of macroscopically observable traits. The absence of observable cribra orbitalia or severe porotic hyperostosis in such an extreme case calls for careful consideration of age-related skeletal changes in the diagnosis of genetic anemias (and anemia in general).Limitations: The individual received blood transfusion treatment that likely prolonged her life-impacting skeletal progression.Suggestions for future research: Descriptions of different anatomical cases of thalassemia, particularly when accompanied with detailed clinical documentation, would further enable the development of more rigorous diagnostic protocols that accommodate skeletal variation in disease expression.

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Section: Paleopathological Implications Of Thalassemia Diagnosis In Prehistorysupporting

confidence: 91%

Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

Techataweewan

Mann

Vlok

et al. 2021

Intl J of Osteoarchaeology

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“…A strongly diagnostic radiographic feature of this disorder is the 'ribwithin-in-a-rib' sign. This feature is produced by extensive marrow hypertrophy perforating the thin cortex of the rib associated with a radiodense line in the middle of the medullary canal 29,66,69,78 . Hypertrophic changes to the hands and feet of infants (with associated expanded foramina in the phalanges) is also characteristic of the disease, as this lesion indicates an extreme form of anemia unlikely to be associated with non-genetic etiologies 12,68 .…”

Section: Paleopathological Differential Diagnosis the Paleopathologimentioning

confidence: 99%

“…Marrow perforation of the cortex known as extramedullary hematopoiesis occurs. In certain circumstances subperiosteal new bone response similar to the "hair-on-end" appearance of the skull, surrounding thin cortices of postcranial bones, can result as a consequence of marrow perforation 69,75 . This skeletal response has been documented to lead to premature fusion of the epiphyses of long bones particularly of the proximal humerus and distal femur 68,75 .…”

Section: Paleopathological Differential Diagnosis the Paleopathologimentioning

confidence: 99%

Forager and farmer evolutionary adaptations to malaria evidenced by 7000 years of thalassemia in Southeast Asia

Vlok

Buckley

Miszkiewicz

et al. 2021

Sci Rep

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Thalassemias are inherited blood disorders that are found in high prevalences in the Mediterranean, Southeast Asia and the Pacific. These diseases provide varying levels of resistance to malaria and are proposed to have emerged as an adaptive response to malaria in these regions. The transition to agriculture in the Holocene has been suggested to have influenced the selection for thalassemia in the Mediterranean as land clearance for farming encouraged interaction between Anopheles mosquitos, the vectors for malaria, and human groups. Here we document macroscopic and microscopic skeletal evidence for the presence of thalassemia in both hunter-gatherer (Con Co Ngua) and early agricultural (Man Bac) populations in northern Vietnam. Firstly, our findings demonstrate that thalassemia emerged prior to the transition to agriculture in Mainland Southeast Asia, from at least the early seventh millennium BP, contradicting a long-held assumption that agriculture was the main driver for an increase in malaria in Southeast Asia. Secondly, we describe evidence for significant malarial burden in the region during early agriculture. We argue that the introduction of farming into the region was not the initial driver of the selection for thalassemia, as it may have been in other regions of the world.

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“…The ineffective erythropoiesis in thalassemia results in marrow expansion, which affects both cortical and cancellous bones, causing widening of the medullary space, cortical thinning, and resorption of the secondary/tertiary bone trabeculae, with subsequent prominent/coarse primary trabeculae creating a "lace-like" appearance. Osteopenia/osteoporosis is seen [ 8 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…In patients with severe thalassemia, there may be radiological evidence of bone deformities and bone marrow expansion as the body tries to compensate for the lack of healthy red blood cells. This can lead to abnormalities in the skull, facial bones, and long bones of the limbs [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Beta-Thalassemia Presenting as Moyamoya Syndrome With a Review of Skeletal Manifestations

Sunil¹,

Sivarajakumar²

2023

Cureus

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Moyamoya angiopathy (MMA) is a progressive vasculopathy characterized by slowly progressive stenosis involving the proximal portions of the major intracranial arteries, resulting in strokes and intracranial hemorrhages. If it occurs secondary to a known cause, it is called Moyamoya syndrome (MMS). Here, we describe the case of a five-year-old male child who presented to us with symptoms of stroke and, upon evaluation, revealed Moyamoya angiopathy. He was further evaluated, and it was found that MMA occurred as a complication of undetected beta-thalassemia. Thalassemia is an autosomal recessive blood disorder where there is a defect in hemoglobin production. It affects 100 to 150 thousand children in the Indian subcontinent. It is classified into two main types: alpha thalassemia and beta thalassemia, depending on which globin chain is affected. It primarily presents with symptoms of anemia such as easy fatiguability, dizziness, jaundice, or breathlessness. The occurrence of Moyamoya syndrome in beta-thalassemia is extremely rare, and it is extremely important to identify MMS at the earliest as it can cause long-term disabilities. We describe the imaging findings in MMS and the various classical skeletal radiographic findings in thalassemia that were seen in our patient.

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Skeletal radiological findings in thalassemia major

Cited by 10 publications

References 57 publications

Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

Forager and farmer evolutionary adaptations to malaria evidenced by 7000 years of thalassemia in Southeast Asia

Beta-Thalassemia Presenting as Moyamoya Syndrome With a Review of Skeletal Manifestations

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